[X] congenital generalized lipodystrophy
Go to external page http://purl.obolibrary.org/obo/MONDO_0006536
An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. [ http://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy ]
Synonyms: lipodystrophy, congenital generalised familial generalized lipodystrophy hereditary generalised lipodystrophy familial generalised lipodystrophy congenital generalized lipodystrophy congenital generalised lipodystrophy (disease) lipodystrophy, congenital generalized congenital generalized lipodystrophy (disease) hereditary generalized lipodystrophy
Term information
- DOID:0050585 (MONDO:equivalentTo)
- MEDGEN:67438 (MONDO:equivalentTo)
- NANDO:1200859 (https://orcid.org/0000-0003-0011-764X)
- NORD:998 (MONDO:NORD)
- UMLS:C0221032 (MONDO:equivalentTo)
- HP:0009059 (MONDO:otherHierarchy)
- EFO:1000681 (MONDO:equivalentTo)
- SCTID:284449005 (MONDO:equivalentTo)
- OMIMPS:608594 (MONDO:equivalentTo)
gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, mondo_top_grouping_integumentary_system_disorder, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, harrisons_view_member, harrisons_view_hereditary_disease, harrisons_view_integumentary_system_disorder, harrisons_view_metabolic_disease
http://identifiers.org/medgen/67438
http://www.ebi.ac.uk/efo/EFO_1000681
http://identifiers.org/snomedct/284449005
http://linkedlifedata.com/resource/umls/id/C0221032
http://purl.obolibrary.org/obo/DOID_0050585
https://omim.org/phenotypicSeries/PS608594